What is Medical Genetics?

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  • Written By: Mary McMahon
  • Edited By: Kristen Osborne
  • Last Modified Date: 29 April 2020
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Medical genetics is the application of genetic research to the diagnosis of inherited conditions. These include everything from congenital conditions to inherited susceptibilities to diseases like cancer. It is part of a field of preventative and predictive medicine aimed at finding and treating genetic components of disease as early as possible. A number of professional organizations serve the field, providing certification to care providers like genetic counselors and geneticists.

One area of medical genetics is in genetic screening. This includes prenatal screening for signs of genetic diseases, along with screening of children and adults with suspected genetic conditions. People who think they might be carriers of genetic abnormalities may request screening before preparing for a pregnancy, to learn more about the risks and explore options for increasing the chances of a healthy pregnancy. Genetic screening can also be used for people who are having trouble getting pregnant to see if there is a genetic component to their fertility issues.

In people with congenital conditions, medical genetics can be used to learn more about the precise nature of the condition and to develop a treatment plan. People with metabolic disorders, for example, may benefit from enzyme supplementation and other measures to compensate for their malfunctioning metabolisms. Since some genetic conditions look similar but require different treatments, another aspect of medical genetics can involve confirming a diagnosis and making sure that doctors are using an appropriate treatment plan.

For people with diseases known to have a genetic component, such as cancers, medical genetics can be used to provide personalized medicine. A patient with breast cancer can be tested, for instance, for signs of estrogen receptors on the cancer. This will be used to select the most appropriate treatment regimen, using drugs targeted at that kind of cancer. The testing may also be used to determine if other family members are at risk of cancer so recommendations about screening and preventative care can be provided.

Medical genetics provides people with a number of avenues for preventing, diagnosing, treating, and managing disease. This field has also attracted some controversy and concerns, as is common with new developments in medicine. Privacy advocates, for instance, worry about the implications of genetic testing and have expressed concerns about genetic discrimination, where people could face social obstacles as a result of the contents of their genomes. Many care providers believe that these risks can be managed so people can access the numerous benefits of medical genetics, including highly precise medical care and early intervention in the treatment of disease.

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